TDP-43 pathology in Alzheimer's disease

A Meneses, S Koga, J O'Leary, DW Dickson… - Molecular …, 2021 - Springer
Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein
encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and …

Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases

JL Carey, L Guo - Frontiers in molecular biosciences, 2022 - frontiersin.org
Liquid-liquid phase separation of RNA-binding proteins mediates the formation of numerous
membraneless organelles with essential cellular function. However, aberrant phase …

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

T Altman, A Ionescu, A Ibraheem, D Priesmann… - Nature …, 2021 - nature.com
Mislocalization of the predominantly nuclear RNA/DNA binding protein, TDP-43, occurs in
motor neurons of~ 95% of amyotrophic lateral sclerosis (ALS) patients, but the contribution …

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

AR Mehta, JM Gregory, O Dando, RN Carter… - Acta …, 2021 - Springer
Axonal dysfunction is a common phenotype in neurodegenerative disorders, including in
amyotrophic lateral sclerosis (ALS), where the key pathological cell-type, the motor neuron …

Nutritional and metabolic factors in amyotrophic lateral sclerosis

A Ludolph, L Dupuis, E Kasarskis, F Steyn… - Nature Reviews …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease that is
classically thought to impact the motor system. Over the past 20 years, research has started …

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll… - Neuron, 2022 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …

Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders

S Jablonka, L Hennlein, M Sendtner - Neurological research and practice, 2022 - Springer
Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …

Loss of mouse Stmn2 function causes motor neuropathy

IG San Juan, LA Nash, KS Smith, MF Leyton-Jaimes… - Neuron, 2022 - cell.com
Amyotrophic lateral sclerosis (ALS) is characterized by motor neuron degeneration
accompanied by aberrant accumulation and loss of function of the RNA-binding protein …

Molecular mechanisms underlying TDP-43 pathology in cellular and animal models of ALS and FTLD

A Wood, Y Gurfinkel, N Polain, W Lamont… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are
neurodegenerative disorders that exist on a disease spectrum due to pathological, clinical …

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …